{"id":1049,"date":"2017-10-27T18:25:12","date_gmt":"2017-10-27T18:25:12","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1049"},"modified":"2026-02-24T16:06:51","modified_gmt":"2026-02-24T16:06:51","slug":"a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/10\/27\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\/","title":{"rendered":"A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Contributed by Dr. Daniele Ghezzi)"},"content":{"rendered":"<p>In our paper, we report the identification of a de novo mutation in ISCU in a young male presenting ptosis, severe muscle weakness, and marked exercise intolerance. The first mutation in ISCU was described almost 10 years in Swedish patients while the second mutation was found the following year. No additional mutation in ISCU has been reported from then on. The associated disease is known as \u201cMyopathy with lactic acidosis\u201d and has an autosomal recessive inheritance. We identified the first heterozygous dominant ISCU mutation which results in a phenotype reminiscent of the recessive disease previously reported. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/10\/27\/jmedgenet-2017-104822\">http:\/\/jmg.bmj.com\/content\/early\/2017\/10\/27\/jmedgenet-2017-104822<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1050\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1-768x575.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1-1024x767.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1.jpg 1388w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In our paper, we report the identification of a de novo mutation in ISCU in a young male presenting ptosis, severe muscle weakness, and marked exercise intolerance. The first mutation in ISCU was described almost 10 years in Swedish patients while the second mutation was found the following year. No additional mutation in ISCU has [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/10\/27\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1049","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Contributed by Dr. Daniele Ghezzi) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/10\/27\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Contributed by Dr. Daniele Ghezzi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In our paper, we report the identification of a de novo mutation in ISCU in a young male presenting ptosis, severe muscle weakness, and marked exercise intolerance. The first mutation in ISCU was described almost 10 years in Swedish patients while the second mutation was found the following year. No additional mutation in ISCU has [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/10\/27\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-10-27T18:25:12+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T16:06:51+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1388\" \/>\n\t<meta property=\"og:image:height\" content=\"1040\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Contributed by Dr. Daniele Ghezzi)\",\"datePublished\":\"2017-10-27T18:25:12+00:00\",\"dateModified\":\"2026-02-24T16:06:51+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/\"},\"wordCount\":120,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/1-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/10\\\/27\\\/a-novel-de-novo-dominant-mutation-in-iscu-associated-with-mitochondrial-myopathy\\\/\",\"name\":\"A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (Contributed by Dr. Daniele Ghezzi) - 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